Canonical Allele Identifier: CA391177952

Gene: BRF1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105241305C>G , CM000676.2:g.105241305C>G	GRCh38
NC_000014.8:g.105707642C>G , CM000676.1:g.105707642C>G	GRCh37
NC_000014.7:g.104778687C>G	NCBI36
NG_029489.1:g.79273G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001519.4:c.654G>C MANE Select	NP_001510.2:p.Trp218Cys
ENST00000547530.7:c.654G>C MANE Select	ENSP00000448387.2:p.Trp218Cys
NM_001242786.1:c.309G>C	NP_001229715.1:p.Trp103Cys
NM_001242786.2:c.309G>C	NP_001229715.1:p.Trp103Cys
NM_001242787.1:c.309G>C	NP_001229716.1:p.Trp103Cys
NM_001242787.2:c.309G>C	NP_001229716.1:p.Trp103Cys
NM_001242788.1:c.573G>C	NP_001229717.1:p.Trp191Cys
NM_001242788.2:c.573G>C	NP_001229717.1:p.Trp191Cys
NM_001242789.1:c.-21+7844G>C	NP_001229718.1:n.-21+7844G>C
NM_001242789.2:c.-21+7844G>C	NP_001229718.1:n.-21+7844G>C
NM_001519.3:c.654G>C	NP_001510.2:p.Trp218Cys
NM_145685.2:c.42G>C	NP_663718.1:p.Trp14Cys
NM_145685.3:c.42G>C	NP_663718.1:p.Trp14Cys
ENST00000327359.7:c.309G>C	ENSP00000329029.3:p.Trp103Cys
ENST00000379932.8:c.42G>C	ENSP00000369264.5:p.Trp14Cys
ENST00000379937.6:c.573G>C	ENSP00000369269.2:p.Trp191Cys
ENST00000392557.8:c.42G>C	ENSP00000376340.4:p.Trp14Cys
ENST00000440513.7:c.309G>C	ENSP00000388877.3:p.Trp103Cys
ENST00000446501.6:c.-21+7844G>C	ENSP00000389859.2:n.-21+7844G>C
ENST00000546417.5:c.214G>C
ENST00000547530.6:c.654G>C	ENSP00000448387.2:p.Trp218Cys
ENST00000549655.5:c.42G>C	ENSP00000448723.2:p.Trp14Cys
ENST00000550208.1:c.42G>C	ENSP00000449173.1:p.Trp14Cys
ENST00000550375.1:c.42G>C	ENSP00000447521.1:p.Trp14Cys
ENST00000551787.5:c.42G>C	ENSP00000446901.1:p.Trp14Cys
ENST00000552127.5:c.42G>C	ENSP00000449788.1:p.Trp14Cys
ENST00000619151.4:c.42G>C	ENSP00000480452.1:p.Trp14Cys
XM_005267561.3:c.654G>C	XP_005267618.1:p.Trp218Cys
XM_005267561.4:c.654G>C	XP_005267618.1:p.Trp218Cys
XM_005267563.2:c.42G>C	XP_005267620.1:p.Trp14Cys
XM_005267563.4:c.42G>C	XP_005267620.1:p.Trp14Cys
XM_006720123.2:c.31+5983G>C	XP_006720186.1:n.31+5983G>C
XM_011536672.1:c.654G>C	XP_011534974.1:p.Trp218Cys
XM_011536672.3:c.654G>C	XP_011534974.1:p.Trp218Cys
XM_011536673.1:c.544+11202G>C	XP_011534975.1:n.544+11202G>C
XM_011536673.2:c.544+11202G>C	XP_011534975.1:n.544+11202G>C
XM_011536674.1:c.141G>C	XP_011534976.1:p.Trp47Cys
XM_024449553.1:c.-21+5766G>C	XP_024305321.1:n.-21+5766G>C